SHP2基因多态和系统性红斑狼风险之间的关系
Rong Li1, Ling Zhou2, Chan Yang1
1Department of Evidence-Based Medicine, Southwest Medical University, Luzhou, Sichuan, China.
International journal of rheumatic diseases
|June 4, 2023
概括
SHP2基因 (rs4767860,rs7132778) 的遗传变异与中国汉族人群中系统性红斑狼 (SLE) 的风险增加有关. 这些多态性也可能影响特定的SLE临床表现.
科学领域:
- 免疫遗传学 免疫遗传学
- 分子生物学分子生物学
- 类风湿病学 类风湿病学
背景情况:
- 系统性红斑狼 (SLE) 是一种复杂的自身免疫性疾病,具有多因素的病因.
- SHP2是一种蛋白质氨酸酸酶,在炎症信号通路中发挥作用.
- 在中国汉族人群中,SHP2基因多态化与SLE易感性之间的关联仍然未被探索.
研究的目的:
- 调查SHP2基因多态化与患SLE的风险之间的相关性.
- 探索特定的SHP2基因多态和SLE患者的临床表现之间的关联.
主要方法:
- 一项涉及320名SLE患者和400名来自中国汉族人口的健康对照的病例控制研究.
- 三个SHP2单核酸多态 (SNP) 的基因定型:rs4767860,rs7132778和rs7953150使用竞争性基因特异性聚合酶链反应 (KASPar).
主要成果:
- SHP2多态 rs4767860 (AA,AG+AA基因型;一个等位基因) 和 rs7132778 (AA,AC+AA基因型;一个等位基因) 与增加SLE风险显著相关.
- rs7132778和rs7953150的特定基因型和等位基因与口腔,发烧,低补血和脱发等临床特征有关.
- 在具有特定rs4767860基因型 (AA,AG) 的患者中观察到C-反应蛋白水平升高.
结论:
- SHP2基因多态,特别是rs4767860和rs7132778,与汉族中国人群中SLE易感性有关.
- 这些遗传变异也可能导致在SLE患者中观察到的各种临床表型.
更多相关视频
07:26High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
Published on: July 18, 2017
11.9K
05:53Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
10.2K
相关概念视频
Genome-wide Association Studies-GWAS
13.7K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
13.7K
Single Nucleotide Polymorphisms-SNPs
15.3K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.3K
Comparing Copy Number Variations and SNPs
17.8K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.8K
Pleiotropy
40.7K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.7K
Genetic Lingo
103.3K
Overview
103.3K
